Article
GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes.
Circulation. Arrhythmia and electrophysiology - 1 Apr 2022
Draelos Rachel L, Ezekian Jordan E, Zhuang Farica, Moya-Mendez Mary E, Zhang Zhushan, Rosamilia Michael B, Manivannan Perathu K R, Henao Ricardo, Landstrom Andrew P
Abstract excerpt
BACKGROUND: Cardiac channelopathies such as catecholaminergic polymorphic tachycardia and long QT syndrome predispose patients to fatal arrhythmias and sudden cardiac death. As genetic testing has become common in clinical practice, variants of uncertain significance (VUS) in genes associated with catecholaminergic polymorphic ventricular tachycardia and long QT syndrome are frequently found. The objective of...
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